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| CASE REPORT |
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| Year : 2020 | Volume
: 9
| Issue : 4 | Page : 242-244 |
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An unusual and interesting case of phaeochromocytoma
Sravanthi Guduru, Harsha Mutthineni, Goveen Manda, Modugu Nageswara Rao
Department of General Medicine, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
| Date of Submission | 01-Nov-2019 |
| Date of Decision | 26-Dec-2019 |
| Date of Acceptance | 20-Jan-2020 |
| Date of Web Publication | 5-Jan-2021 |
Correspondence Address:
Modugu Nageswara Rao
Professor, Department of General Medicine, Nizam's Institute of Medical Sciences, Hyderabad, Telangana
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/JCSR.JCSR_101_19
Phaeochromocytomas are catecholamine-secreting tumours that arise from chromaffin cells of the adrenal medulla. The common age of onset is between the third and fifth decades of life. Commonly adrenal phaeochromocytoma secretes epinephrine (its metabolite metanephrine). Extra-adrenal phaeochromocytoma secretes norepinephrine and normetanephrine. Herein, we present the case of a 13-year-old male patient who presented with palpitations, giddiness and increased appetite for 3 days. He was found to have de novo hypertension. Imaging showed bilateral adrenal masses. Biochemical analysis revealed normal levels of plasma and 24-h urinary metanephrines. On further evaluation, serum metanephrine-fractionated assay showed marked elevation in normetanephrine levels. The patient was initially managed medically with alpha- and beta-blockers. After controlling blood pressure, adrenalectomy was done. The histopathological examination was suggestive of phaeochromocytoma. Adrenal phaeochromocytoma-secreting normetanephrines are a rare entity. On reviewing literature, only a few cases of this type were published.
Keywords: Adrenal mass, metanephrine fractionated, phaeochromocytoma, secondary hypertension
How to cite this article:
Guduru S, Mutthineni H, Manda G, Rao MN. An unusual and interesting case of phaeochromocytoma. J Clin Sci Res 2020;9:242-4 |
| Introduction | |  |
Phaeochromocytoma is a rare neuroendocrine tumour that produces catecholamines and other neuropeptides, originating in the adrenal medulla. It accounts for 0.1%–0.6% of all secondary hypertension cases.[1],[2] It has an estimated incidence of 2–8 cases per million persons annually.[3],[4] Classically, these catecholamine-secreting tumours have been termed the '10% tumour', in which 10% are malignant, 10% are bilateral, 10% are paediatric, 10% are familial and 10% are extra-adrenal.[5],[6] Herein, we present an unusual and interesting patient in whom pheochromocytoma was diagnosed.
| Case Report | | |
A 13-year-old male presented to the emergency department with complaints of palpitations, giddiness and increased appetite for 3 days. There was no significant past or family history.
On examination, patient was conscious with a pulse rate of 120 beats per minute which was having regular rhythm and high volume. All peripheral pulses were felt. Blood pressure in the left upper limb was 190/100 mmHg with no significant upper or lower limb variation. There were no goitre, exophthalmos or skin lesions. Other systems examination was normal. Fundus examination was normal.
On investigations, haemoglobin was 8.7 gm/dL and white blood cell count and platelets were normal. Erythrocyte sedimentation rate (ESR) was 70 mm at the end of first hour. Complete urine examination and renal and liver function tests were normal. Electrocardiogram (ECG) showed sinus tachycardia and left ventricular hypertrophy. Chest radiograph was normal. Two-dimensional echo showed left ventricular hypertrophy.
The patient was given injection labetalol to control blood pressure initially. The clinical history and young hypertension made us suspect secondary hypertension. Abdominal ultrasonography showed that both kidneys are normal in size, shape and echotexture. Corticomedullary differentiation is well maintained. Bilateral adrenal glands are grossly enlarged with right side measuring 6.2 cm × 5.0 cm lobulated lesion with necrotic areas and left side measuring 5.7 cm × 4.7 cm solid cystic lesion. Possibility of bilateral phaeochromocytoma was considered. On contrast-enhanced computed tomography abdomen [Figure 1], the right adrenal gland showed large peripherally enhancing mass lesion measuring 6.9 cm × 4.5 cm abutting liver and inferior vena cava. The left adrenal gland showed large peripherally enhancing mass lesion measuring 5.6 cm × 4.0 cm abutting spleen and left kidney. The findings were suggestive of bilateral phaeochromocytoma. Renal artery Doppler was normal. Ultrasonography of the thyroid was normal. | Figure 1: Axial (left panel) and coronal (right panel) contrast-enhanced computed tomography sections of the abdomen showing peripherally enhancing mass lesion abutting local structures (arrows)
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On hormonal assay, 24-h urinary metanephrines were normal. Serum metanephrines were normal. This finding was unusual in adrenal phaeochromocytoma. Suspecting other catecholamine-secreting tumours, serum metanephrine-fractionated assay and serum dopamine levels were sent. Surprisingly, serum metanephrine-fractionated assay showed a 6-fold elevation in serum normetanephrines. Serum dopamine levels were normal. The hormonal assay and other biochemical markers were noted in [Table 1].
The diagnosis of adrenal phaeochromocytoma was made based on clinical presentation, imaging and hormonal assay. The patient was started initially on alpha-blockers and later on beta-blockers. Endocrinology, medical genetics and urology opinions were taken. The patient's blood pressure was controlled and subjected to bilateral adrenalectomy. Gross examination of tumour showed two nodules [Figure 2] in right adrenal tumour and cysts [Figure 3] in left adrenal tumour. On histopathological examination [Figure 4], both adrenal glands showed zellballen pattern (cells arranged in the form of nests). Immunohistochemistry showed synaptophysin and chromogranin positivity. The diagnosis of adrenal phaeochromocytoma was confirmed. | Figure 2: Right adrenal gland measuring 6.5 cm × 5.6 cm × 3.3 cm cut surface showing two well-defined nodules (arrows) and greyish.white bands throughout the parenchyma
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 | Figure 3: Left adrenal gland measuring 7.0 cm × 5.0 cm × 2.5 cm cut surface showing coarse unilocular cyst with yellow colour mucoid material at one end (arrows)
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 | Figure 4: Section of the right adrenal gland showing cells arranged in nests separated by delicate fibrovascular septae giving the appearance of zellballen pattern (arrows) typical of phaeochromocytoma (Haematoxylin and eosin, X1000)
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| Discussion | | |
Phaeochromocytoma occurs most commonly in the third, fourth and fifth decades. Our patient was only 13 years old at the time of presentation which is an unusual age for phaeochromocytoma. In children, these tumours are associated with hereditary syndromes (10%–20%) such as von Hippel–Lindau syndrome (VHL), type 1 neurofibromatosis and multiple endocrine neoplasia type 2 (MEN2). Our patient was advised for genetic workup. However, workup was not done due to financial issues.
Phaeochromocytomas occurring in patients with MEN2 produce predominantly epinephrine and metanephrine, whereas those occurring in patients with VHL syndrome produce predominantly norepinephrine and normetanephrine. This difference in biochemical phenotypes is due to mutation-specific differential gene expression. The enzyme phenylethanolamine N-methyltransferase (PNMT) is responsible for conversion of normetanephrines to metanephrines. The enzyme PNMT is overexpressed in MEN2-associated tumours and underexpressed in VHL-associated tumours.[7]
Adrenal phaeochromocytoma-secreting normetanephrines as seen in our patient could be explained by two reasons. The first reason is possibility of VHL (tumour predominantly produces normetanephrines). The second reason is patients with large phaeochromocytoma, as in our patient, the expansion of the tumour results in dissociation of the adrenal medulla from the adrenal cortex, thereby adrenal medulla will lose its vascular contact and paracrine control from the adrenal cortex.[8]
The choice of biochemical testing for phaeochromocytoma is changing from time to time. The measurement of plasma metanephrines fractionated is a first-line test in children. Serum metanephrines fractionated has high sensitivity (sensitivity 96%). The risk of missing normetanephrine-secreting adrenal tumours is less with fractionated metanephrines. The initial diagnostic test of choice is to measure serum fractionated metanephrines rather than serum metanephrines. Our case was rare in view of paediatric age of presentation, bilateral involvement and adrenal phaeochromocytoma-secreting normetanephrines.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 3. | Stenström G, Svärdsudd K. Pheochromocytoma in Sweden 1958-1981. An analysis of the National Cancer Registry Data. Acta Med Scand 1986;220:225-32. |
| 4. | Beard CM, Sheps SG, Kurland LT, Carney JA, Lie JT. Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979. Mayo Clin Proc 1983;58:802-4. |
| 5. | Dluhy RG. Pheochromocytoma-death of an axiom. N Engl J Med 2002;346:1486-8. |
| 6. | Frankel F. A case of bilateral completely latent adrenal tumor and concurrent nephritis with changes in the circulatory system and retinitis. CA Cancer J Clin 1984;34:93-106. |
| 7. | Eisenhofer G, Walther MM, Huynh TT, Li ST, Bornstein SR, Vortmeyer A, et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 2001;86:1999-2008. |
| 8. | Wong DL, Siddall BJ, Ebert SN, Bell RA, Her S. Phenylethanolamine N-methyltransferase gene expression: Synergistic activation by Egr-1, AP-2 and the glucocorticoid receptor. Brain Res Mol Brain Res 1998;61:154-61. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]
[Table 1]
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